EPILEPSY

Epilepsy is a common condition that affects about 1 in every 26 people, with approximately 150,000 new cases diagnosed in the U.S. per year.1 Emerging evidence suggests that most epilepsies have a genetic component, making genetic testing increasingly relevant to clinical management.

Genetic testing can identify the molecular cause for a person’s epilepsy, which can inform management decisions. At Ambry, we recognize that when it comes to selecting epilepsy testing:

Bigger Is Not Always Better
Large panel testing of several hundred genes (or more) typically includes a combination of genes for epilepsy, disorders of metabolism, and many other syndromes for which epilepsy is only one of many clinical features. Targeted panels that include only genes associated with epilepsy provide more robust analysis and coverage of the genes included, as they focus solely on the genes of interest.

One Size Does Not Fit All
We offer a flexible range of tests to help you and your patients, depending on the situation:

  • Smaller, targeted panels minimize cost, turnaround time, and the potential for variants of uncertain clinical significance
  • Larger, broad panels maximize detection rates
  • Reflex options allow you to start small and test in a step-wise fashion
  • Chromosomal microarray and ExomeNext (diagnostic exome sequencing) can supplement panel testing

 

  WHO COULD BENEFIT FROM THIS TEST? RELATED SYNDROMES
EpiRapid Patients with epilepsy of unknown etiology
  • Benign familial neonatal/infantile seizures
  • Ohtahara syndrome
  • Pyridoxine-dependent epilepsy
  • Childhood absence epilepsy with febrile seizures
  • Genetic epilepsy with febrile seizures plus (GEFS+)
  • Dravet syndrome
  • West syndrome
  • Lennox-Gastaut syndrome
  • Tuberous sclerosis complex
EpiFirst-Neonate Patients with seizure onset in the first 28 days of life (for premature infants, anytime through 4 weeks post-term)
  • Benign familial neonatal seizures
  • Ohtahara syndrome
  • Pyridoxine-dependent epilepsy
EpiFirst-Fever Patients with febrile seizures of unknown etiology, after thorough clinical evaluation
  • Childhood absence epilepsy with febrile seizures
  • Genetic epilepsy with febrile seizures plus (GEFS+)
  • Dravet syndrome
EpiFirst-IS Patients with infantile spasms of unknown etiology after physical exam, neuroimaging, and biochemical testing
  • West syndrome
  • Lennox-Gastaut syndrome
  • Tuberous sclerosis complex
EpiFirst-Focal Patients with focal epilepsy and no clear lesion on brain MRI
  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
  • Autosomal dominant partial epilepsy with auditory features (ADPEAF)
  • Familial partial epilepsy with variable foci (FPEVF)
PMEFirst/
PMENext
Patients with progressive myoclonus epilepsy
  • Lafora disease
  • Unverricht-Lundborg disease
  • Neuronal ceroid lipofuscinosis (Batten disease)
EpilepsyNext

Patients with epilepsy of unknown etiology after physical exam, neuroimaging, and biochemical testing

Patients with an inconclusive result on an EpiFirst panel

  • Benign familial neonatal/infantile seizures
  • Ohtahara syndrome
  • Pyridoxine-dependent epilepsy
  • Childhood absence epilepsy with febrile seizures
  • Genetic epilepsy with febrile seizures plus (GEFS+)
  • Dravet syndrome
  • Familial hemiplegic migraine
  • West syndrome
  • Lennox-Gastaut syndrome
  • Tuberous sclerosis complex
  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
  • Autosomal dominant partial epilepsy with auditory features (ADPEAF)
  • Familial partial epilepsy with variable foci (FPEVF)
  • Lafora disease
  • Unverricht-Lundborg disease
  • Neuronal ceroid lipofuscinosis (Batten disease)
  • Myoclonic epilepsy myopathy sensory ataxia (MEMSA)
CustomNext-Epilepsy Patients with epilepsy for whom their healthcare provider would like to create a customized panel of epilepsy genes

All disorders included in:

Neurodevelopment-Expanded  Patients with epilepsy in conjunction with intellectual disability, an autism spectrum disorder, or both

All disorders included in:

 

References

  1. Institute of Medicine of the National Academies. England MJ, Liverman CT, Schultz AM, Strawbridge, LM (Eds.). Commitee on the Public Health Dimensions of the Epilepsies; Board on Health Sciences Policy; Institute of Medicine. Epilepsy Across the Spectrum: Promoting Health and Understanding. The National Academies Press. March 20, 2012.